Tuberous Sclerosis Flashcards
1
Q
Name the 2 potential genes causing TS
A
TSC1 on Ch 9 (hamartin)
TSC2 on Ch 16 (tuberin)
2
Q
A mutation of which Chromosome reflects Tuberin in TS?
A
Ch 16 (TSC2)
3
Q
A mutation of which Chromosome reflects Hamartin in TS?
A
Ch 9 (TCS1)
4
Q
What are the clinical features of TS for skin?
A
Ash leaf macules
Shargreen patches (lumbosacral)
Adenoma sebaceum (face)
Subungal fibromas
5
Q
What are the cardiac clinical features of TS?
A
Rhabdomyomas
6
Q
What are the Neurological clinical features of TS?
A
Seizures
Mental retardation
Intracranial calification
7
Q
What are the renal clinical features of TS?
A
Cysts
8
Q
A
